Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders

Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders. Behavioural and Psychophisiological Measures

The primary aim of this observational study is to investigate specific aspects of social cognition in dystrophinopathies. Body awareness, interpersonal distance and emotional processing will be measured in a sample of patients affected by Becker (BMD) and Duchenne (DMD) muscular dystrophy, compared with a sample of patients affected by osteogenesis imperfecta (OI), and both compared with a control sample with typical development.

The secondary aim is to study cortical activity at rest, by means of electroencephalography (EEG), to explore frequencies and time course of EEG responses. Moreover, the relationship between EEG activity and neuropsychological, dispositional and subjective measures will be explored through correlational analyses.

Study procedure includes: 1. Eligibility assessment according to inclusion and exclusion criteria. 2. Administration of questionnaires and scales for the characterization of cognitive and psychological features related with BMD/DMD and OI : Wechsler Intelligence Scale for Children 4th Edition (WISC-IV), Raven's Progressive Matrices; NEPSY-II; The Child Behavior Checklist (CBCL); PedsQL; Toronto Alexithymia Scale (TAS-20); Emotion Regulation Questionnaire (ERQ); Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA); Multidimensional Assessment of Interoceptive Awareness (MAIA); Body Shape Questionnaire (BSQ-14); and the Autism Spectrum Quotient (AQ, adult or child version) 3. Administration of experimental tasks. The Comfort-Distance Task (CDT) to measure the interpersonal comfort distance, the task will be implemented in immersive virtual reality by means of head-mounted displays (OCULUS ©2024 Meta). Interoceptive accuracy will be measured through a modified version of the heartbeat counting task. An emotional priming task will be administered in order to measure emotion processing, participants will be asked to detect trial by trial the target emotion which could be preceded by a congruent or incongruent visual priming.

All the tasks will be performed in a counterbalanced order, for an overall duration of about 40 minutes.

4. Recording of resting state EEG will be collected.

Inclusion Criteria:

• Patients diagnosed with Duchenne and Becker muscular dystrophy (genetic and histological diagnosis and clinical diagnosis) (ambulant and non-ambulant).
• Patients diagnosed with osteogenesis imperfecta.
• Control group: participants without any neurological or psychiatric disorder

Exclusion Criteria:

• presence of comorbid diagnoses,
• sensory deficit
• specific condition that could prevent the application of the tests and tasks under study, such as: a) the need for PEG; b) the need for tracheostomy; c) the need for assisted ventilation.
• cognitive level lower than 60.